METHODS AND RESULTS: To demonstrate this in silico research, the following male infertility candidate genes were selected: (1) human BOULE, mutations of which may lead to germ cell arrest at the primary spermatocyte stage, (2) mutations of casein kinase 2 alpha genes which may cause globozoospermia, (3) DMR-N9 which is possibly involved in the spermatogenic defect of myotonic dystrophy and (4) several testes expressed genes at or near the breakpoints of a balanced translocation associated with hypospermatogenesis.

The DMWD protein level gradually increased, was expressed specifically in the neuropil of areas with a high density of synaptic connections and was dispersed in a punctuate fashion throughout the neural cell body, but excluded from axons

The repeat lies in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK), and it has been hypothesised that the expansion alters the expression levels of DMPK and/or its neighbouring genes, DMWD and SIX5.

There is now circumstantial evidence that long (CTG)n repeats may affect the expression of any of at least three genes, myotonic dystrophy protein kinase (DMPK), DMR-N9 (gene 59), and a DM-associated homeodomain protein (DMAHP).

Located in close proximity is a second gene, coding for a transcript of about 3 kb, that is homologous to the gene DMR-N9 in the corresponding mouse locus, but has no homologies to other known genes or proteins.